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Aliases & Descriptions for LAMB2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| LAMS 2, 3, 5 | | S-laminin 3 |
| | | Descriptions |
|---|
| Laminin B1s chain 3 | | laminin S 2 | | laminin, beta 2 2 | | laminin, beta 2 (laminin S) 2 |
|
| | Search outside databases for aliases for LAMB2 genePrevious GC identifers: GC03P046915 GC03P048475 GC03M049012 GC03M049117 |
Summaries for LAMB2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for LAMB2: Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq] UniProtKB/Swiss-Prot: LAMB2_HUMAN, P55268Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix componentsGene Wiki entry for LAMB2 (Laminin%2C_beta_2) |
Genomic Location for LAMB2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the LAMB2 gene 
Entrez Gene cytogenetic band: 3p21 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p21.3-p21.2LAMB2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M049133:
(about GC identifiers)
Start:
|
49,133,551 bp from pter |
End:
|
49,145,603 bp from pter |
Size:
|
12,053 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000003.10 NT_022517.17
| Proteins for LAMB2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: LAMB2_HUMAN, P55268 (See
protein sequence)Recommended Name: Laminin subunit beta-2 precursor Size: 1798 amino acids; 195981 Da
Subunit: Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-2 is a subunit of laminin-3 (S-laminin), laminin-4 (S-merosin), and laminin-7 (KS-laminin)
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane. Note=S-laminin is concentrated in the synaptic cleft of the neuromuscular junction
Secondary accessions: Q16321REFSEQ proteins: NP_002283.3
ENSEMBL proteins: ENSP00000378785 ENSP00000307156
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for LAMB2: Assays for LAMB2: | Protein
Domains/ Families for LAMB2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P55268
ProtoNet protein and cluster: P55268 1 Blocks protein family: IPB002049 Laminin-type EGF-like domain
UniProtKB/Swiss-Prot: LAMB2_HUMAN, P55268Domain: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structureDomain: Domains VI and IV are globularSimilarity: Contains 13 laminin EGF-like domainsSimilarity: Contains 1 laminin IV type B domainSimilarity: Contains 1 laminin N-terminal domain | Gene Function for LAMB2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002292
Applied Biosystems Silencer® siRNAs for LAMB2
Sigma-Aldrich siRNA and siRNA Panels for LAMB2  Sigma-Aldrich shRNA Panels and shRNA for LAMB2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_002292                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002292                                  untagged cDNA clone in CMV expression vector: NM_002292 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_002292
UniProtKB/Swiss-Prot: LAMB2_HUMAN, P55268Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix componentsGenatlas biochemistry entry for LAMB2:laminin,beta 2 polypeptide,component of basement membrane of skeletal muscle neuromuscular junction,kidney glomerulus,nerve fascicle perineurium,vascular smooth muscle,paralog to LAMB18 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Lamb2):
2 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for LAMB2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 5/8 Sigma-Aldrich "Your Favorite Gene" Pathways for LAMB2 (Your Favorite Gene powered by Ingenuity) (see all 8
) 
5/116 Interacting proteins for LAMB2 (ENSP000003071563 P552682) via UniProtKB, MINT, and/or STRING (see all 116
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007155 | cell adhesion |
IEA | -- | | GO:0048677 | axon extension involved in regeneration |
IEA | -- | About this table
|
Drugs & Compounds for LAMB2(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for LAMB2 2 Novoseek chemical compound relationships for LAMB2 gene
About this table
|
Transcripts for LAMB2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002292
Sigma-Aldrich siRNA and siRNA Panels for LAMB2  Sigma-Aldrich shRNA Panels and shRNA for LAMB2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_002292 REFSEQ mRNAs for LAMB2 gene: NM_002292.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_002292               OriGene GFP tagged cDNA clone in CMV expression vector: NM_002292                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002292                                  untagged cDNA clone in CMV expression vector: NM_002292  Additional cDNA sequence: AK094050.1 S77512.1 X72760.1 19 DOTS entries: DT.448403 DT.100825203 DT.97787761 DT.85104167 DT.100031014 DT.97821860 DT.100825205 DT.91876035 DT.95232335 DT.95229765 DT.97767595 DT.120921792 DT.95332409 DT.97792696 DT.120921772 DT.85104169 DT.91787263 DT.95087319 DT.91777805 24/443 AceView cDNA sequences (see all 443
):N80961 CD675282 CN482243 AW951881 CA396849 BE695052 BX106076 BM800431 CD673000 BQ950352 CA454715 BU157117 CA390148 BE008418 BQ923188 BQ029937 BU543641 AL548159 BM719839 BU845654 AL042497 CD672106 BU623752 AL520305
highest scoring ESTs for LAMB2:S77512 X79683 AA025615 AA029360 AA076116 AA076218 AA093202 AA095122 AA156802 AA296977 Unigene Cluster for LAMB2: Laminin, beta 2 (laminin S) Hs.439726 [show with all ESTs]Unigene Representative Sequence: NM_002292
GeneLoc Exon Structure
5/21 Alternative Splicing Database (ASD) splice patterns (SP) for LAMB2 (see all 21
)
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17a | · | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 17b | ^ | 18a | · | 18b | ^ | 19a | · | 19b | ^ | 20 | ^ | 21a | · | 21b | ^ | 22 | ^ | 23a | · | 23b | ^ | 24a | · | 24b | ^ | 25a | · | 25b | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30a | · | 30b | ^ | 31a | · | 31b | ^ | 32 | ^ | 33 | ^ | 34 | ^ | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 35 | ^ | 36 | ^ | 37a | · | 37b | · | 37c | ^ | 38 | ^ | 39 | ^ | 40a | · | 40b | · | 40c | ^ | 41 | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for LAMB2
2 Ensembl transcripts including schematic representations: ENST00000395387
ENST00000305544
|
Expression for LAMB2
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| LAMB2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for LAMB2
1 / 2 / 3 3 probe-sets matching LAMB2 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TCTGCCTATG
SOURCE GeneReport for Unigene cluster: Hs.439726
Expression variation in blood from EXPOLDB for LAMB2 |
Orthologs for LAMB2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for LAMB2 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for LAMB2
ENSEMBL Gene Tree for LAMB2 | Paralogs for LAMB2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for LAMB2 gene
- LAMB12 LAMB42
|
SNPs/Variants for LAMB2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for LAMB2 (up to first 250kb)
|
Disorders & Mutations for LAMB2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 150325 disorders: 609049 609049 UniProtKB/Swiss-Prot: LAMB2_HUMAN, P55268
Defects in LAMB2 are the cause of Pierson syndrome [MIM:609049]; also known as microcoria-congenital nephrotic syndrome. Pierson syndrome is characterized by nephrotic syndrome with neonatal onset, diffuse mesangial sclerosis and eye abnormalities with microcoria as the leading clinical feature. Death usually occurs within the first weeks of life. Disease severity depends on the mutation type: nontruncating LAMB2 mutations may display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome Defects in LAMB2 are a cause of congenital nephrotic syndrome [MIM:609049]. Congenital nephrotic syndrome constitutes a heterogeneous group of conditions having in common the disruption of normal glomerular permselectivity. Congenital nephrotic syndrome due to LAMB2 mutations may be associated with ocular abnormalities6 Novoseek disease relationships for LAMB2 gene
About this table
Human Gene Mutation Database: LAMB2 Human Genome Epidemiology Navigator: LAMB2 (4 documents)
|
Medical News for LAMB2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for LAMB2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/86 PubMed articles for LAMB2 gene (see all 86
):- Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. (PubMed id 16912710)1, 3, 4 Hasselbacher K.... Hildebrandt F. (2006)
- The human laminin beta 2 chain (S-laminin): structure, expression in fetal tissues and chromosomal assignment of the LAMB2 gene. (PubMed id 7795887)1, 3, 4 Iivanainen A.... Tryggvason K. (1995)
- Human beta 2 chain of laminin (formerly S chain): cDNA cloning, chromosomal localization, and expression in carcinomas. (PubMed id 7698745)1, 3, 4 Wewer U.M.... Albrechtsen R. (1994)
- Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. (PubMed id 15367484)3, 4 Zenker M.... Reis A. (2004)
- Characterization of the human laminin beta2 chain locus (LAMB2): linkage to a gene containing a nonprocessed, transcribed LAMB2-like pseudogene (LAMB2L) and to the gene encoding glutaminyl tRNA synthetase (QARS). (PubMed id 10393422)2, 3 Durkin M.E....Wewer U.M. (1999)
- A laminin-like adhesive protein concentrated in the synaptic cleft of the neuromuscular junction. (PubMed id 2922051)2, 3 Hunter D.D....Sanes J.R. (1989)
- [LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia] (PubMed id 16898484)1, 3 Zurowska A....Zenker M. (2006)
- Identification of a new autoantibody in patients with chronic hepatitis. (PubMed id 15603881)1, 3 Fukuda Y....Kato T. (2004)
- Selective assembly of laminin variants by human carcinoma cells. (PubMed id 7967523)1, 3 Wewer U.M.... Albrechtsen R. (1994)
- Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)4 Chen R.... Zou H. (2009)
|
Search for LAMB2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing LAMB2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing LAMB2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing LAMB2(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| Licensable Technologies for LAMB2 gene:
| Services for LAMB2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for LAMB2:

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Incremental update: 13 Oct 2009
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